HsaINT0084374 @ hg38
Intron Retention
Gene
ENSG00000184611 | KCNH7
Description
potassium voltage-gated channel subfamily H member 7 [Source:HGNC Symbol;Acc:HGNC:18863]
Coordinates
chr2:162394389-162396945:-
Coord C1 exon
chr2:162396740-162396945
Coord A exon
chr2:162394486-162396739
Coord C2 exon
chr2:162394389-162394485
Length
2254 bp
Sequences
Splice sites
5' ss Seq
AAGGTATAT
5' ss Score
7.84
3' ss Seq
TTCATGTTCCATTAACAAAGGCT
3' ss Score
2.73
Exon sequences
Seq C1 exon
GAAAAAATGATATATTTGGAGAAATGGTTCATCTTTATGCCAAACCTGGAAAGTCTAATGCAGATGTAAGAGCCCTCACATACTGTGACTTGCATAAGATTCAGCGAGAAGACTTGTTAGAGGTTTTGGATATGTATCCTGAGTTTTCTGATCACTTTCTAACAAACCTAGAGTTGACTTTCAACCTAAGGCATGAGAGCGCAAAG
Seq A exon
GTATATGTTAACTGTTTGCTTATGTCTGTATTTCTGACATTTTATTTTATTCTTGAATTGCACAAATACTTCTGAAAAATCAAGCAAAATATTGCAGCAAGACTTTACCAATTCTGAATATTTGGAAGGAAAGGCCAACTGAATATTAAAATTTCTGAATTATAGGAAAGAAATTTAGCCTAATTGCTTTCCAATACGTTGAATAATTTCAAGTAGTTCAATTAGGTTTGACCTTGTAGAAGCCCTTAGGTGCCACACTTGAGTTAAAATAGCCTTTGTTTATAGTGTGCCAATTATTTGCTAGAAATGGGTGATTTTAGGCTGTTGAAAATTACTTGAGTTTATCTTATACAGAGGTTAGAATATTCTCTCAGCTATTATTTACACTGTACATTGGTTATCAGTGTCTTCACAATAATAATGAAAAAATTAACCTCATTCAAGTTTAGTTTCCTATTTAATACAATTTCCAAATCACAGAAGTACAAATTAGTCAGGTTTTACAGTATTGTCAGTTTTAATGGTGCAGAATGAATATGTAGTCTAACAGAAATAATAGTTTAAATAATTATATATGTAAGTTAACCCAGAATGAACTTCGAGTGTAGCTCTTATGTTCCTTACTCTTTTCTACTGTGAAAATGTGCCCTTATGAGCTATTACTGTTCTATGGCTATAAAACTTACGTTGTAACCAAAAATTTATTACTAGGTTATTCCTCTTCCATCCCTTTTCCCCCAAAATTTCACAACTCCACTCTAATTCTAAATGCTTTTTTAAATCAGAAATCAAATATTGAGTGATTGATACTTGCCAGTGTATTTAAATGCTAAGTAATATATTCTCTGGGGAAAAAAACCCTAAAGTCAATAGTTAGGTAAGAGGGGGTAGATTTAACACTTGCTGTAGTTATAGACATTCCCAAGTACCATGAGAGGCTTAAAAGAGAAAGAGGAATTTTAAGGGCCCCTAGATGCCATTTAATACCCTGATACACCAGTTCAGATAATTATTTCTTTTTAAAACTCTGAAAAGTTTTTTTTAATTGAAGTGGAAAAAGATTCTAGTTATTAAGAACATATGTTTTTGTAATGGTTTTAATTCAGTAATTTGTCCCAATCTTAGTTTTATGTCACCACCCTCATTCTGACTTTGCCTTGAAAAGTAACAAATATCTACCTCTCATAACTTCTTTATATAAAAGTTTAGTCAGTACTCAAATAAACAAGAGCTTCCATTTTTATTTACAAGGTAGACAATATTAGACAGAGTGAACCAGAGAGGGAAGAAGGAGGATCTGGGAGCAAAATAATAAAGGGTTCAAAGTGTAATGTTTATGGAATTTAACCTTATATTTATTGTTGTGAAATTTAACCTTACGATAATTACCATGTCATTTAAACACCATAGCTAATTTTAACTATTTTACACATTTTTCTTTGCAGTACTATTAGTTATGCAAAGTTCTTTAAATTACTACAATTGACTTTTGAACAACATGGGAATTCAGAACACCAATCCTTGTATAGTTGAAAATCTGCAAATAACTTTTGACTCCACAAAAACTAAATTACTGATAGCCTACTATTTATTAGAAGCCTTACCAATAATGTAATCAGTCAATGAACACATATTTTGTATATTTTTATAAAATGTATTCTTACAATAAAGTAAGCTATAGAAAAGAAAATATTATTAAAAAATCATAAGGATGAGGATATATATTTACCATTAATTAAGTGGGAGTAGATTATCATAAAGATCATCATCTCATCATCTTCATATTTAATAGGCTATGGAGGAGGAGGAAGAGGAATGGTTGGTCTTGCTGTCTGAGGAGTAACAGAGGAAAAAGAAAATTCATGTATAAGTGAACCTGCACAGTTAAAGCCTGTATTGTTCAAGGGTCAACTGTATTATTCTTATTTTAACTTTATCAAGTTGCATAAAACACATTCCACATAAAGAAATATTTTATCTTTAAATGTTGACATCATCCCTAAACATTTCACATAAATAACTCCTACACTATGATTTCCCCAGCAAATGGTGAAAGTACTAAAAATTATTCTATCTGTGTATGTTACAATAAAGAGACAAGTATTAAGCAAGGTATTTTAGCTGTTTGCCTGCAATCTAATAATTAAGTCTCAAGATGGTTGAAACAATATGAAATAGTAAACAGTTTACTGAATAGTACATTGTGTTCTAATTCAGTAATCTTTCATTTTATCTTCATGTTCCATTAACAAAG
Seq C2 exon
GCTGATCTCCTACGATCACAATCCATGAATGATTCAGAAGGAGACAACTGTAAACTAAGAAGAAGGAAATTGTCATTTGAAAGTGAAGGAGAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000184611:ENST00000332142:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.667
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=PD(53.4=68.1)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development